Access to Genetic Testing in Patients With Suspected Genetic Kidney Disease in Europe.
10 affiliations
- 1Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
- 2Department of Obstetrics and Gynecology, Wilhelmina Children's Hospital Birth Centre, University Medical Centre Utrecht, Utrecht, The Netherlands.
- 3Department of General Pediatrics, University Children's Hospital, Münster, Germany.
- 4Department of Epidemiology, University Medical Centre Groningen, Groningen, The Netherlands.
- 5Alström Syndrome UK (ASUK), Torquay, Devon, UK.
- 6Department of Pediatric Nephrology, Hereditary Kidney Diseases Laboratory, Reference Center for Inherited Renal Diseases (MARHEA), Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France.
- 7Laboratory of Hereditary Kidney Diseases, Institut Imagine, Paris, France.
- 8Division of Pediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany.
- 9Department of Pediatrics, University Hospital RWTH Aachen, Aachen, Germany.
- 10PKD Charity UK, London Office, PKD International, London, UK.
Abstract
Introduction
A genetic diagnosis can transform care for patients with monogenic kidney disease-guiding treatment, prognosis, family-planning, and care for relatives. Despite technological advancements, nephrologists still experience barriers to implementing diagnostic genetic testing in daily practice.Methods
We surveyed 240 pediatric nephrologists, adult nephrologists, and clinical geneticists across 39 European countries on the accessibility of and barriers to genetic testing for suspected genetic kidney disease. Using the Consolidated Framework for Implementation Research (CFIR) model, we assessed barriers at national, hospital, individual, and implementation-process levels. Results were stratified by region (North, East, South, West Europe, and non-Organization for Economic Cooperation and Development (OECD) countries). Binary logistic regression identified factors associated with barrier experience.Results
Overall, 97% regarded genetic testing an important tool to improve care, yet 50% experienced barriers in daily practice. Median barrier severity score was 4.0 (interquartile range [IQR] 4, scale 1-10). Non-OECD countries showed higher scores (6.8 (IQR 3.6), P < 0.001). Most reported national-level barriers were lacking clear professional guidelines and concerns about posttest insurability. Hospital-level barriers included insufficient clinic's resources (costs, time, technical facilities, and staffing), missing protocols for eligible patients or workflow and turnaround time (nonurgent: 12 weeks [IQR 12], urgent: 3 weeks [IQR 2]). Ranking barriers by region revealed a gradient from fewest barriers in Northern Europe, followed by West, South, East, and most in non-OECD countries. Lack of external funding and non-OECD origin were associated with barriers.Conclusion
We identified barriers that must be addressed at a European level and within regions. We provide recommendations to promote equitable care for patients with suspected hereditary kidney disease in Europe.
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BibTeX
@article{gosselink2026access,
title = {{Access to Genetic Testing in Patients With Suspected Genetic Kidney Disease in Europe.}},
author = {Margriet E Gosselink and Femke Buining and Jens König and A Titia Lely and Henk Groen and Laura R Claus and Kerry Leeson and Laurence Heidet and Sophie Saunier and Franz Schaefer and Max C Liebau and Tess Harris and Albertien M van Eerde},
journal = {Kidney international reports},
year = {2026},
month = sep,
doi = {10.1016/j.ekir.2026.107070},
url = {https://europepmc.org/article/MED/42921271},
note = {CC BY},
}
RIS
TY - JOUR
TI - Access to Genetic Testing in Patients With Suspected Genetic Kidney Disease in Europe.
AU - Margriet E Gosselink
AU - Femke Buining
AU - Jens König
AU - A Titia Lely
AU - Henk Groen
AU - Laura R Claus
AU - Kerry Leeson
AU - Laurence Heidet
AU - Sophie Saunier
AU - Franz Schaefer
AU - Max C Liebau
AU - Tess Harris
AU - Albertien M van Eerde
PY - 2026
DA - 2026/09/08
JO - Kidney international reports
DO - 10.1016/j.ekir.2026.107070
UR - https://europepmc.org/article/MED/42921271
AB - Introduction A genetic diagnosis can transform care for patients with monogenic kidney disease-guiding treatment, prognosis, family-planning, and care for relatives. Despite technological advancements, nephrologists still experience barriers to implementing diagnostic genetic testing in daily practice.Methods We surveyed 240 pediatric nephrologists, adult nephrologists, and clinical geneticists across 39 European countries on the accessibility of and barriers to genetic testing for suspected genetic kidney disease. Using the Consolidated Framework for Implementation Research (CFIR) model, we assessed barriers at national, hospital, individual, and implementation-process levels. Results were stratified by region (North, East, South, West Europe, and non-Organization for Economic Cooperation and Development (OECD) countries). Binary logistic regression identified factors associated with barrier experience.Results Overall, 97% regarded genetic testing an important tool to improve care, yet 50% experienced barriers in daily practice. Median barrier severity score was 4.0 (interquartile range [IQR] 4, scale 1-10). Non-OECD countries showed higher scores (6.8 (IQR 3.6), P < 0.001). Most reported national-level barriers were lacking clear professional guidelines and concerns about posttest insurability. Hospital-level barriers included insufficient clinic's resources (costs, time, technical facilities, and staffing), missing protocols for eligible patients or workflow and turnaround time (nonurgent: 12 weeks [IQR 12], urgent: 3 weeks [IQR 2]). Ranking barriers by region revealed a gradient from fewest barriers in Northern Europe, followed by West, South, East, and most in non-OECD countries. Lack of external funding and non-OECD origin were associated with barriers.Conclusion We identified barriers that must be addressed at a European level and within regions. We provide recommendations to promote equitable care for patients with suspected hereditary kidney disease in Europe.
SN - 2468-0249
ER -